Canonical Allele Identifier: CA31864748
Gene: LMX1A HGNC NCBI

Linked Data

dbSNP Id: rs137990365
gnomAD v2: 1-165288220-C-CCTCT
gnomAD v3: 1-165318983-C-CCTCT
gnomAD v4: 1-165318983-C-CCTCT
MyVariant Identifiers: chr1:g.165288226_165288227insCTCT (hg19) chr1:g.165288220_165288221insCTCT (hg19) chr1:g.165318989_165318990insCTCT (hg38) chr1:g.165318983_165318984insCTCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.165318997_165319000dup , CM000663.2:g.165318997_165319000dup GRCh38
NC_000001.10:g.165288234_165288237dup , CM000663.1:g.165288234_165288237dup GRCh37
NC_000001.9:g.163554858_163554861dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000294816.6:c.263+34089_263+34092dup ENSP00000294816.2:n.263+34089_263+34092dup
ENST00000342310.7:c.263+34089_263+34092dup MANE Select ENSP00000340226.3:n.263+34089_263+34092dup
ENST00000367893.4:c.263+34089_263+34092dup ENSP00000356868.4:n.263+34089_263+34092dup
NM_001174069.1:c.263+34089_263+34092dup NP_001167540.1:n.263+34089_263+34092dup
NM_177398.3:c.263+34089_263+34092dup NP_796372.1:n.263+34089_263+34092dup
XM_011509540.1:c.263+34089_263+34092dup XP_011507842.1:n.263+34089_263+34092dup
XM_011509540.2:c.263+34089_263+34092dup XP_011507842.1:n.263+34089_263+34092dup
NM_177398.4:c.263+34089_263+34092dup MANE Select NP_796372.1:n.263+34089_263+34092dup
NM_001174069.2:c.263+34089_263+34092dup NP_001167540.1:n.263+34089_263+34092dup
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